Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 830
MIM: 601571
HGNC: 1490
Ensembl: ENSG00000198898
Variants:
dbSNP: 830
ClinVar: 830
TCGA: ENSG00000198898
COSMIC: CAPZA2
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38374166 | 2024 | Heterozygous CAPZA2 mutations cause global developmental delay, hypotonia with epilepsy: a case report and the literature review. | 0 |
| 38374166 | 2024 | Heterozygous CAPZA2 mutations cause global developmental delay, hypotonia with epilepsy: a case report and the literature review. | 0 |
| 34796874 | 2021 | Capping protein regulates endosomal trafficking by controlling F-actin density around endocytic vesicles and recruiting RAB5 effectors. | 7 |
| 34796874 | 2021 | Capping protein regulates endosomal trafficking by controlling F-actin density around endocytic vesicles and recruiting RAB5 effectors. | 7 |
| 32338762 | 2020 | Variants in CAPZA2, a member of an F-actin capping complex, cause intellectual disability and developmental delay. | 13 |
| 32338762 | 2020 | Variants in CAPZA2, a member of an F-actin capping complex, cause intellectual disability and developmental delay. | 13 |
Citation
Dessen P
CAPZA2 (capping actin protein of muscle Z-line subunit alpha 2)
Atlas Genet Cytogenet Oncol Haematol. 2014-08-01
Online version: http://atlasgeneticsoncology.org/gene/54190/capza2-(capping-actin-protein-of-muscle-z-line-subunit-alpha-2)
